G12V (p.Gly12Val) variant of DBH (Dopamine beta-hydroxylase)
G12V (p.Gly12Val) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
G12V (p.Gly12Val) variant details
- p.Gly12Val
- gnomAD 9-133636406-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.03
- MetaLR 0.07
- MetaSVM -1.01
- CADD 16.10
- PolyPhen-2 0.04
- SIFT 0.06
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available